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A 44-year-old woman presented with a 15-year history of ataxic gait. Medical history disclosed global developmental delay and supravalvular aortic stenosis and persistent arterial duct. Examination showed facial dysmorphisms (dysmorphic ears, broad nose, ocular hypertelorism), dysbasia and bilateral dysmetria. Neuroimaging studies disclosed diffuse leukoencephalopathy (Figures 1 and 2). Whole-exome sequencing was unremarkable. Microarray-based Comparative Genomic Hybridization disclosed 9p24.3 duplication, diagnosing partial trisomy 9p syndrome. Partial trisomy 9p syndrome is a common chromosomal disorder associated with facial and appendicular dysmorphisms, congenital cardiopathy, cognitive and motor compromise1,2, and different patterns of neuroimaging disturbances, including neuronal migration disorders, Dandy-Walker malformation1,2 and leukoencephalopathy, as presented here.

A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy